类孟买血型的鉴定及家系调查(附1例报告)

Identification and family survey on an individual with para-Bombay phenotype

目的鉴定类孟买血型1例,分析其血清学特点及家系调查,为临床输血提供血源信息。方法运用血型血清学方法鉴定先证者及其家族成员的ABO血型,以吸收放散试验检测红细胞上的弱抗原,用中和抑制试验测定其唾液中的血型物质,用PCR-SSP方法进行ABO基因分型。结果先证者及其双胞胎哥哥均鉴定为Ah分泌型类孟买血型,其中先证者血清中检出较弱抗-HI,其他家族成员为正常血型。结论血清学方法结果与基因分型结果一致,对于罕见的稀有血型进行家系调查,可能发现同样表现型的个体,在需要输血时可以互为供体。

Objective To identify a case of para-Bombay phenotype, and analyze its serological characteristics and carry out family survey, in order to provide blood source information for the clinical. Methods Routine serological methods were used to identify ABO blood type of the probands and their family members, the weak antigens on red blood cells were detected by absorption and elution test, ABO substances were determined by serum neutralization inhibition test in saliva, PCR- SSP was used for ABO genotyping. Results Proband and his twin brother were confirmed as Ah-secretion, including weak anti-HI was detected in propane＇s serum, and the other family members were normal blood type. Conclusion The serological results are consistent with the genotyping results. Family survey for rare blood type may find the same phenotype of indi, viduals, so can donate with each other when blood transfusion was needed.